If any of you are parents, I am sure the birth of your child was a whirlwind of memories, doctors, paperwork, tests, and visitors. One thing that most parents do remember is when the doctor or nurse came and poked the heel of their newborn. They collected five spots of blood on this special type of paper and sent it off. But what few know is that those samples are used for one of the most important tests your newborn will undergo. They have come to call this whole process “newborn” screening, and it is very important for your child’s future.
Current newborn testing takes those dried-blood spot (DBS) samples and sends them out to a state laboratory for testing. Several different types of tests that search for abnormalities of particular analytes within the blood are conducted. Results are typically returned to the physician within 10-14 days. If any abnormalities are found, the metabolic test is repeated on the DBS sample. If the secondary results return abnormal, the child will most likely undergo some type of genetic testing to verify the diagnosis. Unfortunately, the current system experiences delays in sample processing and reporting. In addition, there is variability from state-to-state on the number of conditions tested. Newborn screening lacks consistency and timeliness. That’s why we launched Baby Genes.
Baby Genes offers supplemental newborn screening, meaning a child still receives the state-mandated newborn screening. We utilize next generation sequencing to perform targeted sequencing of 89 genes clinically linked to the recommended newborn screening conditions as well as several conditions that have been recommended for inclusion, including: Fabry disease, Gaucher disease, Niemann-Pick Type C, and X-linked ALD. Because we are testing DNA, a source unlikely to alter within the first days of life, the sample can be collected immediately following birth. The sample is then shipped overnight to our laboratory and processing commences. The results are reported within 96 hours of sample receipt. This means that physicians and parents receive screening results within the first few days of life, rather than having to wait 10-14 days. If there are abnormalities, parents and physicians can make decisions that much earlier if abnormalities are found. Baby Genes strives to provide each child with an equal opportunity at a healthy start!
The Baby Genes laboratory is located in Golden, Colorado. As a startup lab, we faced the challenge of finding a laboratory information management system (LIMS) that met our needs but did not break the bank. Quality of results is vital, and something that we take very seriously at Baby Genes. We needed to find a system that would allow us to meet our quality guidelines and could be implemented quickly. After researching several options, we found that BaseSpace Clarity LIMS Silver by GenoLogics would be our closest and most affordable fit. The compatibility with next generation library preparation and sequencing was a main component that we found most helpful. Although BaseSpace Clarity LIMS Silver did not incorporate all of our needs, we were able to use creativity to mold the system to fill the gaps. By implementing customized calculations and modified instrument monitoring, we found a LIMS that best fits our laboratory and budget.
We would like to thank the GenoLogics team for their support and patience with Baby Genes during our LIMS implementation. We would recommend this product for other startup laboratories in need of a solid and affordable LIMS!
For more information about Baby Genes Supplemental Newborn Screening please visit https://www.babygenes.net/.
Watch Megan Hudziec and Kaylee Dollerschell discuss the important work they do, and why they chose BaseSpace Clarity LIMS in their lab